Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease
DOI:
https://doi.org/10.3889/oamjms.2017.128Keywords:
Incontinentia Pigmenti, genodermatosis, NEMO, cutaneous manifestations, systemic diseaseAbstract
Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn.Downloads
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Woon-Kyong Chung, Deok-Woo Lee, Sung-Eun Chang et Al. A Case of incontinentia pigmenti associated with multiorgan abnormalities. Ann Dermatol. 2009; 21: 56–59. https://doi.org/10.5021/ad.2009.21.1.56 PMid:20548858 PMCid:PMC2883371
Babu NA, Rajesh E, Krupaa J, Gnananandar G. Genodermatoses. J Pharm Bioallied Sci. 2015;7(Suppl 1): S203–S206. PMid:26015711 PMCid:PMC4439671
Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 2003;139:1163–1170. https://doi.org/10.1001/archderm.139.9.1163 PMid:12975158
Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47:169–187. https://doi.org/10.1067/mjd.2002.125949 PMid:12140463
Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet. 2000;45:323-326. https://doi.org/10.1007/s100380070001 PMid:11185738
Jean-Baptiste S, O'Toole EA, Chen M et Al. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. 2002;127:470-478. https://doi.org/10.1046/j.1365-2249.2002.01755.x PMid:11966763 PMCid:PMC1906303
Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch- Sulzberger syndrome) in neonates. Medicina (Kaunas). 2005;41:496–499.
Buinauskaite E, Buinauskiene J, Kucinskiene V, Strazdiene D, Valiukeviciene S. Incontinentia pigmenti in a male infant with Klinefelter syndrome: a case report and review of the literature. Pediatr Dermatol. 2010;27:492-495. https://doi.org/10.1111/j.1525-1470.2010.01261.x PMid:20807362
Song JY, Na CH, Chung BS, Choi KC, Shin BS. A case of a surviving male infant with incontinentia pigmenti. Ann Dermatol. 2008;20:134-137. https://doi.org/10.5021/ad.2008.20.3.134 PMid:27303177 PMCid:PMC4903964
Kutkowska-Kaźmierczak A, Obersztyn E, Bonnefont JP, Rosińska-Borkowska D, Mazurczak T, Sobczyńska-Tomaszewska A, Mazurczak T. Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases. Med Wieku Rozwoj. 2008;12:748-753. PMid:19305025
Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79:355-362. PMid:17569396
Chung WK, Lee DW, Chang SE, Lee MW, Choi JH, Moon KC. A case of incontinentia pigmenti associated with multiorgan abnormalities. Ann Dermatol. 2009;21: 56–59. https://doi.org/10.5021/ad.2009.21.1.56 PMid:20548858 PMCid:PMC2883371
Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, Freitas AM, Maahs MA, Zen PR, Fiegenbaum M, Almeida ST, Bonamigo RR, Bau AE. Incontinentia pigmenti. An Bras Dermatol. 2014;89:26-36. https://doi.org/10.1590/abd1806-4841.20142584 PMid:24626645 PMCid:PMC3938351
Chun SR, Rashid RM. Delayed onychodystrophy of incontinentia pigmenti: an evidence- based review of epidemiology, diagnosis and management. J Drugs Dermatol. 2010;9:350-354. PMid:20514792
Chan YC, Happle R, Giam YC. Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti? J Am Acad Dermatol. 2003;49:929-931. https://doi.org/10.1016/S0190-9622(03)00474-2
Santa-Maria FD, Mariath LM, Poziomczyk CS, Maahs MA, Rosa RF, Zen PR, Schüller- Faccini L, Kiszewski AE. Dental anomalies in 14 patients with IP: clinical and radiological analysis and review.Clin Oral Investig. 2016 [Epub ahead]. PMid:27766487
Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2013;17:1-8. https://doi.org/10.1007/s00784-012-0721-5 PMid:22453515
Minić S, Obradović M, Kovacević I, Trpinac D. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis. Srp Arh Celok Lek. 2010;138:408-413. https://doi.org/10.2298/SARH1008408M PMid:20842883
Minić S, Trpinac D, Obradović M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis. 2013;8:25. https://doi.org/10.1186/1750-1172-8-25 PMid:23406512 PMCid:PMC3576363
Pörksen G, Pfeiffer C, Hahn G, Poppe M, Friebel D, Kreuz F, Gahr M. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics. 2004;35:139-142. https://doi.org/10.1055/s-2004-815837 PMid:15127315
Godambe S, McNamara P, Rajguru M, Hellmann J. Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report. J Perinatol. 2005;25:289-292. https://doi.org/10.1038/sj.jp.7211250 PMid:15789024
Moreira Neto CA, Moreira AT, Moreira Jr CA. Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti. Arq Bras Oftalmol. 2014;77:47-49. https://doi.org/10.5935/0004-2749.20140012 PMid:25076373
Tomotaki S, Shibasaki J, Yunoki Y, Kishigami M, Imagawa T, Aida N, Toyoshima K, Itani Y. Effectiveness of corticosteroid therapy for acute neurological symptoms in incontinentia pigmenti. Pediatr Neurol. 2016;56:55-58. https://doi.org/10.1016/j.pediatrneurol.2015.12.002 PMid:26777982
Nagase T, Takanashi M, Takada H, Ohmori K. Extensive vesiculobullous eruption following limited ruby laser treatment for incontinentia pigmenti: a case report. Australas J Dermatol. 1997;38:155-157. https://doi.org/10.1111/j.1440-0960.1997.tb01135.x PMid:9293665
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